Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors

Genome-wide association studies (GWAS) have made remarkable progress to date in deciphering the genetic foundations of complex traits, yet persistent gaps remain in how sample heterogeneity is measured and reported. Current practices typically emphasize diversity by broad ancestry categories or stratification by country of recruitment, but these dimensions alone fail to capture the immigration-related factors that contribute to the genetic or environmental origins of heterogeneity. We argue that incorporating variables, such as country of origin, in descriptions and analyses provides essential context for interpreting genetic associations, particularly in increasingly multi-population and trans-national GWAS samples. We highlight how neglected these variables are in the literature using the GWAS Catalog. We provide suggestions for reporting on these data in future studies. By advocating for a more comprehensive view of diversity in GWAS, we aim to address the under-representation of immigrants in GWAS and thereby strengthen the validity and interpretability of future genomic studies.

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Publication Details

Journal
Frontiers in Genetics
Published
2026-01-04
DOI
https://doi.org/10.3389/fgene.2025.1725866
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
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article

Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors

Lindsay Fernández‐Rhodes, Yao Tu
Frontiers in Genetics
Genetic Associations and Epidemiology
article

Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors

Lindsay Fernández‐Rhodes, Yao Tu
article en

Abstract

Genome-wide association studies (GWAS) have made remarkable progress to date in deciphering the genetic foundations of complex traits, yet persistent gaps remain in how sample heterogeneity is measured and reported. Current practices typically emphasize diversity by broad ancestry categories or stratification by country of recruitment, but these dimensions alone fail to capture the immigration-related factors that contribute to the genetic or environmental origins of heterogeneity. We argue that incorporating variables, such as country of origin, in descriptions and analyses provides essential context for interpreting genetic associations, particularly in increasingly multi-population and trans-national GWAS samples. We highlight how neglected these variables are in the literature using the GWAS Catalog. We provide suggestions for reporting on these data in future studies. By advocating for a more comprehensive view of diversity in GWAS, we aim to address the under-representation of immigrants in GWAS and thereby strengthen the validity and interpretability of future genomic studies.

Frontiers in GeneticsVol. 16
University of North Carolina at Chapel Hill (US), Pennsylvania State University (US)
Reduced inequalities
Openalex Percentile: Top 97%
Genetic Associations and Epidemiology
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